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Epb41l2 Gene Detail
Summary
  • Symbol
    Epb41l2
  • Name
    erythrocyte membrane protein band 4.1 like 2
  • Synonyms
    4.1G, D10Ertd398e, Epb4.1l2, NBL2
  • Feature Type
    protein coding gene
  • IDs
    MGI:103009
    NCBI Gene: 13822
  • Alliance
    gene page
  • Transcription Start Sites
    26 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:25235696-25399417 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 12.26 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4195 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103009
 protein coding gene Chr10:25235680-25399417 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017098
 protein coding gene Chr10:23387605-23557089 (+)
A/J MGP_AJ_G0017075
 protein coding gene Chr10:22685194-22844169 (+)
AKR/J MGP_AKRJ_G0017035
 protein coding gene Chr10:23067881-23226002 (+)
BALB/cJ MGP_BALBcJ_G0017038
 protein coding gene Chr10:22790086-22981618 (+)
C3H/HeJ MGP_C3HHeJ_G0016858
 protein coding gene Chr10:23282227-23444841 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017496
 protein coding gene Chr10:24113189-24287987 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015194
 protein coding gene Chr10:21355041-21509778 (+)
CAST/EiJ MGP_CASTEiJ_G0016437
 protein coding gene Chr10:23243513-23405918 (+)
CBA/J MGP_CBAJ_G0016832
 protein coding gene Chr10:25223203-25416893 (+)
DBA/2J MGP_DBA2J_G0016937
 protein coding gene Chr10:22412718-22575053 (+)
FVB/NJ MGP_FVBNJ_G0016932
 protein coding gene Chr10:22118183-22272945 (+)
LP/J MGP_LPJ_G0017014
 protein coding gene Chr10:23375692-23539340 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016962
 protein coding gene Chr10:25283686-25454012 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017532
 protein coding gene Chr10:22931355-23094565 (+)
PWK/PhJ MGP_PWKPhJ_G0016219
 protein coding gene Chr10:22217771-22375097 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016003
 protein coding gene Chr10:22760950-22915109 (+)
WSB/EiJ MGP_WSBEiJ_G0016500
 protein coding gene Chr10:23059959-23237113 (+)



Homology
more
  • Human Ortholog
    EPB41L2, erythrocyte membrane protein band 4.1 like 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EPB41L2, erythrocyte membrane protein band 4.1 like 2
  • Synonyms
    4.1-G, 4.1G
  • Links
    NCBI Gene ID: 2037
    neXtProt AC: NX_O43491
    UniProt: O43491

  • Chr Location
    6q23.1-q23.2; chr6:130839347-131063322 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 3 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    954
  • Tissues
    61
  • cDNA Data
    276
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019978 Ensembl Gene Model | MGI Sequence Detail 163722 C57BL/6J ±  kb
    transcript ENSMUST00000053748 Ensembl | MGI Sequence Detail 4385 Not Applicable  
    polypeptide ENSMUSP00000055122 Ensembl | MGI Sequence Detail 988 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 280
      cDNA 277
      Primer pair 2
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-23846, MGI:1196302, MGI:2143867
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 5
      Gene Ontology 10
      Phenotypes 25
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:321605 Saito M, et al., Cytoskeletal Protein 4.1G Is Essential for the Primary Ciliogenesis and Osteoblast Differentiation in Bone Formation. Int J Mol Sci. 2022 Feb 14;23(4)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory